Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

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http://www.wikidata.org/entity/Q35751411
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?RARS2 mutations in a sibship with infantile spasms.Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Cerebral Manifestations of Mitochondrial Disorders.Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Item
http://www.wikidata.org/entity/Q35751411
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
@zh-cn
name
Neuropathologic Characterizati ...... due to Novel RARS2 Mutations.
@ast
Neuropathologic Characterizati ...... due to Novel RARS2 Mutations.
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type
label
Neuropathologic Characterizati ...... due to Novel RARS2 Mutations.
@ast
Neuropathologic Characterizati ...... due to Novel RARS2 Mutations.
@en
prefLabel
Neuropathologic Characterizati ...... due to Novel RARS2 Mutations.
@ast
Neuropathologic Characterizati ...... due to Novel RARS2 Mutations.
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Neuropathologic Characterizati ...... y due to Novel RARS2 Mutations
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10.1097/NEN.0000000000000209
P433
P478
P50
P577
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P698
P932